ESPE Abstracts

Background: Working as a physician is accompanied by emotional and physical stress.Objective and hypotheses: Our study aimed to investigate the effect of working day and night in a children’s hospital on catecholamine excretion as a marker for acute stress and to work out possible gender differences.Methods: 22 paediatricians (ten females, 12 males) aged 27–41 years collected four 12-h urine samples: two during a 24 h-shi...

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

Background: In patients with acid-labile subunit (ALS) deficiency, the inability to build ternary complexes results in a marked reduction of circulating total IGF1. Height reduction by heterozygosity is about 1 SD in comparison to wild type. In homozygosity or compound heterozygosity a height loss of −2 to −2.5 SD occurs. This is suggestive of a gene-dose effect. How does treatment with human GH influence height development in relation...

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

Background: The Fanconi syndrome (FS) and GH deficiency (GHD) is a rare association. The FS is a dysfunction in the proximal tubule that can be idiopathic or primary. This dysfunction leads to renal loss of bicarbonate, phosphate, glucose, potassium and amino acids. One of the clinical feature is a delay in body growth. The correction of acidosis can protect the loss of growth. According to the prevalence of idiopathic GHD, it would be expected that 1 in 4 000 patients and, wi...

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

Background: Most individuals with neonatal hypothyroidism present clinically asymptomatic or with few symptoms. Early treatment with oral levothyroxine prevents complications related to this disorder. We report a case of a male infant with Short Bowel syndrome (SBS) and congenital hypothyroidism (CH) treated with rectal levothyroxine.Case and presentations: A male patient with previous gastroschisis underwent multiple surgical approaches for small bowel ...

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...